Aliases: MEL1, PFM13, KIAA1675, MGC166915, KMT8F.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Cardiac Transcriptional and Developmental Program Dysregulation
|
| Left Ventricular Noncompaction 8 |
untyped
Pathogenic Variants
|
animal model: Cardiac-specific Prdm16 conditional knockout mouse (conduction and fibrosis phenotype); Prdm16 cardiomyocyte-specific deletion mouse (conduction-system phenotype); Prdm16 cardiomyocyte-specific knockout mouse (Prdm16cKO); Prdm16Q187X knock-in mouse; Prdm16csp1/wt systemic monoallelic mouse; Sex-stratified cardiac-specific Prdm16 conditional knockout mouse; Zebrafish prdm16 haploinsufficiency and truncation model
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| dilated cardiomyopathy MONDO:0005021 | AD | Strong 2026-02-23 |
Dilated Cardiomyopathy
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.